ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2617A>T (p.Met873Leu)

gnomAD frequency: 0.00001  dbSNP: rs1404045332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349253 SCV001543587 uncertain significance Gastrointestinal stromal tumor 2023-08-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1044929). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 873 of the KIT protein (p.Met873Leu).
Ambry Genetics RCV002431986 SCV002740758 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-26 criteria provided, single submitter clinical testing The p.M873L variant (also known as c.2617A>T), located in coding exon 19 of the KIT gene, results from an A to T substitution at nucleotide position 2617. The methionine at codon 873 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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